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Table 1 LATAM ACH studies evaluating patient-important or economic burden outcomes not accountable for the meta-analysis

From: Impact of achondroplasia on Latin American patients: a systematic review and meta-analysis of observational studies

Author, year South or Central America LATAM country Scenario # of patients Age, Mean (SD), y Female, % BMI, Mean (SD) Exclusion criteria Individual and/or population outcomes Type of burden outcomes Specify outcomes
Case series studies
Cervantes [35] Central America Mexico Rehabilitation service of the National Institute of Pediatrics 7 9 42.85 NR Patients with previous lumbar spine instrumentation, patients with abdominal skin lesions, patients undergoing surgical procedures and abdominal exercises one month before the proposed date for starting physiotherapy Individual Spinal issues including stenosis, compression and associated pain Patients received electrotherapy and spinal flexion exercises with an average of 18 therapy sessions for the correction of lumbar hyperlordosis
Dantas and Medeiros [26] South America Brazil Medical Genetics Service at Alcides Carneiro University Hospital, Federal University of Campinas Grande NR NR NR NR NR Individual Quality of life QoL
Others Endocrinological data
Nervous system disorders Neurological problems
Cross-sectional studies
Barbosa-Buck et al.£ [6] South America Argentina, Bolivia, Brazil, Chile, Colombia, Ecuador, Paraguay, Uruguay and Venezuela Hospitals from nine South American countries 68 NR NR NR NR Individual Premature mortality Perinatal mortality
Perinatal complications Premature birth
Cervan et al.£ [24] South America Brazil Small People Association of Brazil (AGPB) 21 32.70 (11.18) 61.90 33 (6.96) NR Individual Quality of life Physical; psychological; social; environmental
Gomez et al. [58] South America Colombia Leather Design and Manufacturing Center 8 NR NR NR NR Population Environmental burden Adaptation of shoes, health economic impact
Lima [38] South America Brazil Previously agreed location in the city of Sao Paulo 7 NR 14.28 NR NR Population Psychological impact Humiliation; stigma, recognition
Socioeconomic burden Labor market
Rocha and Wagner [69] South America Brazil NR 8 NR NR NR NR Individual / Population Orthopedic complications Joint mobility
Psychosocial complications Perception of their psychosocial life
Environmental burden Challenges in physical activity
Case report studies
Abrão et al. [39] South America Brazil NR 1 29 Female 95.18 NR Individual Cardio-respiratory-metabolic disorders; and spinal issues including stenosis, compression and associated pain, and others Use of a bronchofibroscope
Arlet et al. [41] Central America Mexico Orthopedic Clinic, Benemérita Universidad Autónoma de Puebla 1 8 Female NR NR Individual Others Horizontal overlap and crossbite
Benavides et al., 2018 [42] South America Colombia NR 1 23 Female 36.76 NR Individual Pregnant patient Cardio-respiratory-metabolic disorders Obesity, difficulty airway, difficulty ventilation and intubation, postoperative pulmonary complications, and cardiovascular complications such as risk of pulmonary hypertension crisis, acute heart failure, perioperative myocardial infarction during general anesthesia
Spinal issues including stenosis, compression and associated pain Neck instability and risk of spinal cord compression with neck, hyperextension, and difficult spinal and epidural puncture during regional anesthesia
Calderón et al. [43] Central America Cuba University polyclinic “Ana Betancourt” 1 25 Female NR NR NA$ NA$ NA$
Carbia et al.¢ [44] South America Argentina Clinical Medical and Dermatology Divisions, Hospital "José María Ramos Mejía". Buenos Aires 1 83 Female NR NR Individual Others Cicatricial metastasis as the presenting sign of squamous cell esophagus carcinoma
Carmen et al. [46] South America Chile Obstetrics Service of the Ambato Regional Teaching Hospital 1 29 Female 27.54 NR Individual Pregnant patient
Perinatal complications
Moderate anemia and cholecystitis
Carolina et al. [47] South America Chile NR 1 1.10 Female NR NR Individual Spinal issues including stenosis, compression and associated pain
Nervous system disorders
Aqueductal stenosis with symptomatic spinal cord compression
Hydrocephalus
Castro [48] South America Brazil Methodist University of Piracicaba (UNIMEP) 1 28 Female 28.47 NR Individual / Population Pain Complaints of lower back and leg pain after a period of walking and low back pain caused by hyperlordosis
Orthopedic complications Varus foot
Environmental burden Difficulty getting on the bus because of the distance from the sidewalk to the step and the height of the steps
Eusebio and Vidal [55] Central America Dominican Republic NR 1 4 Female NR NR Individual Spinal issues including stenosis, compression and associated pain
Orthopedic complications
Lumbar hyperlordosis
Bilateral femoral elongation surgery
Frade et al. [57] South America Brazil University Hospital of Brasilia 1 0.1* Female 18.5 NR Individual Perinatal complications Needed positive pressure ventilation during birth, and during hospitalization, jaundice occurred
Galego et al. [27] South America Brazil NR 1 32 Female 41.6 NR Individual Pregnant patient
Perinatal complications
Emergency cesarean section due to umbilical cord prolapse
Hernández-Motiño et al. [59] Central America Mexico Children's Hospital of Mexico Federico Gómez 1 5 Female NR NR Individual Cardio-respiratory-metabolic Pulmonary arterial hypertension, apnea, and respiratory arrest, necessitating mechanical ventilation, making extubation impossible due to weakness of chest muscles
Orthopedic complications Limb functional limitation
Spinal issues including stenosis, compression and associated pain Compression of the cervicospinal canal
Nervous system disorders Delayed psychomotor development
Others Vesicostomy for neurogenic bladder
Jesus et al. [28] South America Brazil Charitable Health Association of Northeast Paraná Norospar, Umuarama, PR 1 16 Female 37.5 NR Individual Pregnant patient
Cardio-respiratory-metabolic disorders
Hypotension and dyspnea
Pain Pain at birth
Medina et al. [62] South America Paraguay Pediatric Service Hospital Central, Institute of Social Security. Pediatric Intensive Care Unit 1 2.6 Female NR NR Individual Cardio-respiratory-metabolic disorders Hospitalized for serious respiratory symptoms, admitted to pediatric ICU with assisted ventilation
Spinal issues including stenosis, compression and associated pain Medullary compression with decompressive surgery
Morais et al. [63] South America Brazil Anesthesiology Department, Hospital Lifecenter, Belo Horizonte 1 47 Male NR NR Individual Spinal issues including stenosis, compression and associated pain Thoracic kyphosis and severe lumbar lordosis, in addition to surgical scar on the lumbar region
Others Hemorrhoidectomy
Muratore and Viollaz [64] South America Argentina Británico Hospital, Buenos Aires 1 21 Female 37.19 NR Individual Orthopedic complications Bilateral femoral elongation surgery
Nascimento et al. [30] South America Brazil Federal Hospital of Lagoa 1 51 Female 48.6 NR Individual Cardio-respiratory-metabolic disorders Obesity and videolaparoscopic gastroplasty
Oliveira et al. [31] South America Brazil Vera Cruz Hospital, Campinas / SP 1 33 Female 37.72 NR Individual Pregnant patient
Pain others
Peritoneal plane pain at birth
Others Hypothyroidism and difficulty in epidural anesthesia for cesarean
Palmira et al. [65] Central America Cuba Gyneco-obstetric University Hospital "Ana Betancourt de Mora" Camagüey 1 20 Female NR NR Individual Pregnant patient
Cardio-respiratory-metabolic disorders
Obesity, bronchial asthma, and respiratory difficulty during pregnancy
Spinal issues including stenosis, compression and associated pain Lumbar hyperlordosis
Others Twin pregnancy of 34 weeks preventing  the patient to walk, to stand up, and no tolerance of supine decubitus; 10 days of hospitalization after complications at birth with cesarean section
Pimentel and Figueiredo [67] South America Brazil Professor Edgard Santos University Hospital Complex, Salvador 1 73 Male 46.82 NR Individual Others Surgical treatment of colon adenocarcinoma, after surgery the patient was diagnosed with septic shock with an abdominal focus which required a new surgical approach, deep venous thrombosis, 30th day of hospitalization
Posada et al. [68] South America Colombia NR 1 0.8* Male NR NR Individual Pregnant patient
Cardio-respiratory-metabolic disorders
Apnea
Spinal issues including stenosis, compression and associated pain Cervicomedullary compression, no cephalic control, chronic cervical myelopathy; spinal decompression
Nervous system disorders Seizures, irritability
Orthopedic complications Abolished tendon reflexes
Rudas et al. [71] South America Colombia NR 1 29 Female 33.9 NR Individual Pregnant patient
NA$
NA$
Tosato and Alves [32] South America Brazil Hospital da Sagrada Família, Salvador, Bahia 1 22 Female NR NR Individual Pregnant patient
NA$
NA$
Uemura et al. [74] South America Brazil Ambulatory of the Specialization Course in Pediatric Dentistry of the Union of Dentists of the State of São Paulo (SOESP) 1 4 Female NR NR Individual Psychosocial complications Does not accept his physical condition or maintain contact with other children
Others Anterior open bite
Werb et al. [33] South America Brazil Getúlio Vargas State Hospital, Rio de Janeiro 1 79 Female NR NR Individual Others Blood coagulation disorder with indication of suprapatellar amputation of lower limb
  1. ACH: achondroplasia; ICU: intensive care unit; LATAM: Latin America; NR: not reported; NA: not applicable SD: standard deviation; BMI: body mass index
  2. ¢Hypochromic microcytic anemia (hematocrit 30) with hypoferremia and hypoproteinemia
  3. *months
  4. #number
  5. $Case report study that did not evaluate any pre-defined burden outcomes
  6. £Comparative cross-sectional studies